Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma

por Von Volkmann, Hilde L., Brønstad, Ingeborg, Fiskerstrand, Torunn, Gudbrandsen, Oddrun Anita
Publicado 2019

Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

por Wedding, Iselin Marie, Kroken, Mette, Henriksen, Sandra Pilar, Selmer, Kaja Kristine, Fiskerstrand, Torunn, Knappskog, Per Morten, Berge, Tone, Tallaksen, Chantal ME
Publicado 2015

Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation

por von Volkmann, Hilde L., Brønstad, Ingeborg, Gilja, Odd Helge, R. Tronstad, Rune, Sangnes, Dag Andre, Nortvedt, Ragnar, Hausken, Trygve, Dimcevski, Georg, Fiskerstrand, Torunn, Nylund, Kim
Publicado 2017

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

por Høberg-Vetti, Hildegunn, Ognedal, Elisabet, Buisson, Adrien, Vamre, Tone Bøe Aaman, Ariansen, Sarah, Hoover, Jacqueline M., Eide, Geir Egil, Houge, Gunnar, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Bjorvatn, Cathrine, Knappskog, Per Morten
Publicado 2020

STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

por Heimdal, Ketil, Sanchez-Guixé, Monica, Aukrust, Ingvild, Bollerslev, Jens, Bruland, Ove, Jablonski, Greg Eigner, Erichsen, Anne Kjersti, Gude, Einar, Koht, Jeanette A, Erdal, Sigrid, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Boman, Helge, Bjørkhaug, Lise, Tallaksen, Chantal ME, Knappskog, Per M, Johansson, Stefan
Publicado 2014